Morava, Eva

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. [electronic resource] - European journal of pediatrics Aug 2004 - 467-71 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0340-6199

10.1007/s00431-004-1465-2 doi


Acidosis, Lactic--complications
Adenine Nucleotide Translocator 1--deficiency
Cardiomyopathy, Hypertrophic, Familial--complications
Cataract--complications
Child
Female
Humans
Infant
Male
Mitochondrial Myopathies--complications
Oxidative Phosphorylation
Siblings
Syndrome